CAJ | 학술논문

目的研究Turner综合征的终身高、生长激素水平、学历和性发育的变化.方法 239例Turner综合征进行染色体检查,68例行生长激素激发试验, 45例随访学历和性发育的情况.结果染色体核型分4组,第1组45,X,95例;第2组嵌合型64例;第3组X染色体结构畸变74例;第4组伴有Y染色体6例.终身高139.2±8.3㎝.生长激素完全缺乏18例,部分缺乏34例,正常16例.随访45例中,学历大部分在初中、技校和中专19例有不同程度的性发育,26例无性发育 .结论 Turner征患者终身高明显低于正常人群,生长激素分泌低下,学习能力降低,性发育不全.
목적연구Turner종합정적종신고、생장격소수평、학력화성발육적변화.방법 239례Turner종합정진행염색체검사,68례행생장격소격발시험, 45례수방학력화성발육적정황.결과염색체핵형분4조,제1조45,X,95례;제2조감합형64례;제3조X염색체결구기변74례;제4조반유Y염색체6례.종신고139.2±8.3㎝.생장격소완전결핍18례,부분결핍34례,정상16례.수방45례중,학력대부분재초중、기교화중전19례유불동정도적성발육,26례무성발육 .결론 Turner정환자종신고명현저우정상인군,생장격소분비저하,학습능력강저,성발육불전.
Objective: To research change the terminal height , the level of growth hormone, sexual development and record of formal schooling in Turner syndrome(TS).Methods: Karyotyping, growth hormone provocation tests, follow -up observations of schooling record and sexual development were studied. Results: 239 TS were karyotyped in 4 groups: I, 45,X,95; II, mosaicism ,64; III, with various aberrations of structure of X chromosome, 74; IV, with Y chromosome, 6. Terminal heights were 139.2±8.3cm, 68 growth hormone tests, Growth hormone deficiency 18, part of deficiency 34 and normal 16. In the follow -up survey of 45 TS, record of formal schooling were mainly junior middle school, skill school and special school. 19 had various of degree sexual development and 26 had no. Conclusion: The terminal heights of TS were marked lower than normal, Growth hormone was deficiency, learning ability decline, hypoplasia of sex gland.